Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.
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Tian Y, Tang L, Cui J, Zhu X
Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.
Curr Eye Res. 2010 May;35(5):440-4. doi: 10.3109/02713680903503512.
- PubMed ID
- 20450258 [ View in PubMed]
- Abstract
PURPOSE: To investigate the significance of carbonic anhydrase IV gene mutations in sporadic retinitis pigmentosa (RP) among the Chinese population. METHODS: A total of 116 patients with simplex RP and adRP of Chinese ethnicity were screened for mutations in the eight coding exons of the CA4 gene by sequencing. Immunostaining and Real-Time PCR were used to measure the cellular localization and expression level of CA4 variations. RESULTS: Ten sequence alterations were identified, including a novel variant within exon 1 of CA4 (A12T) in a patient with RP. No notable difference was found between wild-type protein and A12T mutant protein in the distribution pattern. However, there was a decrease in level of mRNA expression of 3' UTR mutant to wild-type. CONCLUSIONS: The results suggest that the expression level of CA IV may be important to maintain retina function in RP.